MED, cilt.2, sa.1, ss.33-38, 2021 (ESCI)
Background: Recent advances n genomics have enabled the successful identification of a number of rare pathogenic. mutations Uncovering these mutations is essential as the first step toward devising a cure for the often debilitating and life-limiting diseases arising from them For many of these mutations, targeted agents do not yet exist. Here, we describe the case of a patient who has a novel pathogenic mutation n the erythropoietin (EPO) gene, which is essential for normal erythropoiesis, and who presented with a profound hypoplastic anemia.